ONTOLOGY REPORT - ANNOTATIONS


Term:mixed connective tissue disease
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Accession:DOID:3492 term browser browse the term
Definition:A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a 'speckled' epidermal nuclear staining pattern on direct immunofluorescence.
Synonyms:exact_synonym: Connective tissue disease overlap syndrome;   MCTD;   Sharp Syndrome;   mixed collagen vascular disease
 primary_id: MESH:D008947;   RDO:0006131
 xref: GARD:7051
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mixed connective tissue disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8662437
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8142347
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147801
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:10448928
G Snrpc small nuclear ribonucleoprotein polypeptide C JBrowse link 20 7,409,401 7,427,581 RGD:10766447
G Tlr3 toll-like receptor 3 JBrowse link 16 50,016,466 50,031,011 RGD:5129221
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:8142347

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Path 1
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  disease 14875
    syndrome 4220
      mixed connective tissue disease 8
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          collagen disease 233
            mixed connective tissue disease 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.